Canonical Allele Identifier: CA339953751

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393335C>G (hg19) ; chr1:g.42927664C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927664C>G , CM000663.2:g.42927664C>G	GRCh38
NC_000001.10:g.43393335C>G , CM000663.1:g.43393335C>G	GRCh37
NC_000001.9:g.43165922C>G	NCBI36
NG_008232.1:g.36513G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1219G>C MANE Select	ENSP00000416293.2:p.Ala407Pro
ENST00000674545.1:n.1836G>C
ENST00000674765.1:c.1030-807G>C	ENSP00000501811.1:n.1030-807G>C
ENST00000675112.1:n.1520G>C
ENST00000676254.1:n.1668G>C
ENST00000426263.7:c.1219G>C	ENSP00000416293.2:p.Ala407Pro
ENST00000475162.3:c.416-686G>C
ENST00000630287.2:c.*534G>C	ENSP00000486694.1:n.*534G>C
NM_006516.2:c.1219G>C	NP_006507.2:p.Ala407Pro
NM_006516.3:c.1219G>C	NP_006507.2:p.Ala407Pro
NM_006516.4:c.1219G>C MANE Select	NP_006507.2:p.Ala407Pro